Meacham Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MEACHS MCID: MCH011 MIFTS: 34	Meacham Syndrome (MEACHS) Categories: Cardiovascular diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Meacham Syndrome

MalaCards integrated aliases for Meacham Syndrome:

Name: Meacham Syndrome ⁵⁷ ⁵⁸ ⁷³ ²⁹ ¹³ ⁶ ³⁹ ⁷¹

Rhabdomyomatous Dysplasia-Cardiopathy-Genital Anomalies Syndrome ⁵⁸

Meacham Winn Culler Syndrome ⁷¹

Meacham-Winn-Culler Syndrome ⁵⁸

Meachs ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁸

meacham syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Reproductive diseases Endocrine diseases Cardiovascular diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other specified congenital malformation syndromes, not elsewhere classified

Orphanet: ⁵⁸

Rare gynaecological and obstetric diseases

Rare endocrine diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM® ⁵⁷ 608978

ICD10 via Orphanet ³³ Q87.8

UMLS via Orphanet ⁷² C1837026 C2931752

Orphanet ⁵⁸ ORPHA3097

MedGen ⁴¹ C1837026

UMLS ⁷¹ C1837026 C2931752

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Summaries for Meacham Syndrome

UniProtKB/Swiss-Prot : ⁷³ Meacham syndrome: Rare sporadically occurring multiple malformation syndrome characterized by male pseudohermaphroditism with abnormal internal female genitalia comprising a uterus and double or septate vagina, complex congenital heart defect and diaphragmatic abnormalities.

MalaCards based summary : Meacham Syndrome, also known as rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome, is related to nephrotic syndrome, type 4 and wilms tumor 1. An important gene associated with Meacham Syndrome is WT1 (WT1 Transcription Factor). Affiliated tissues include uterus, spleen and heart, and related phenotypes are congenital diaphragmatic hernia and aplasia/hypoplasia of the lungs

More information from OMIM: 608978

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Related Diseases for Meacham Syndrome

Diseases related to Meacham Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)

#	Related Disease	Score	Top Affiliating Genes
1	nephrotic syndrome, type 4	29.5	WT1 LOC107982234
2	wilms tumor 1	29.1	WT1 LOC107982234
3	meacham winn culler syndrome	11.0
4	diaphragmatic hernia, congenital	10.0
5	denys-drash syndrome	10.0
6	pagod syndrome	10.0
7	cardiac-urogenital syndrome	10.0
8	pseudohermaphroditism	10.0
9	diffuse mesangial sclerosis	10.0
10	genetic steroid-resistant nephrotic syndrome	10.0
11	septate vagina	10.0
12	frasier syndrome	9.7	WT1 LOC107982234
13	wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome	9.6	WT1 LOC107982234
14	aniridia 1	9.6	WT1 LOC107982234

Graphical network of the top 20 diseases related to Meacham Syndrome:

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Symptoms & Phenotypes for Meacham Syndrome

Human phenotypes related to Meacham Syndrome:

⁵⁸ ³¹ (show all 26)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	congenital diaphragmatic hernia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000776
2	aplasia/hypoplasia of the lungs ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0006703
3	ambiguous genitalia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000062
4	vaginal atresia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000148
5	abnormal fallopian tube morphology ³¹	hallmark (90%)		HP:0011027
6	cryptorchidism ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000028
7	hypoplastic left heart ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0004383
8	hypoplasia of penis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0008736
9	hydrometrocolpos ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0030010
10	pulmonary sequestration ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0100632
11	horseshoe kidney ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000085
12	atrial septal defect ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001631
13	coarctation of aorta ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001680
14	tetralogy of fallot ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001636
15	patent ductus arteriosus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001643
16	ventricular septal defect ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001629
17	abnormality of the spleen ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001743
18	situs inversus totalis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001696
19	transposition of the great arteries ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001669
20	aortic valve stenosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001650
21	anomalous pulmonary venous return ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0010772
22	crossed fused renal ectopia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0004736
23	abnormality of the vagina ⁵⁸		Very frequent (99-80%)
24	abnormal lung lobation ⁵⁸		Frequent (79-30%)
25	abnormality of the fallopian tube ⁵⁸		Very frequent (99-80%)
26	conotruncal defect ⁵⁸		Occasional (29-5%)

Clinical features from OMIM®:

608978 (Updated 05-Mar-2021)

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Drugs & Therapeutics for Meacham Syndrome

Search Clinical Trials , NIH Clinical Center for Meacham Syndrome

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Genetic Tests for Meacham Syndrome

Genetic tests related to Meacham Syndrome:

#	Genetic test	Affiliating Genes
1	Meacham Syndrome ²⁹	WT1

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Anatomical Context for Meacham Syndrome

MalaCards organs/tissues related to Meacham Syndrome:

⁴⁰

Uterus, Spleen, Heart, Kidney, Lung

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Publications for Meacham Syndrome

Articles related to Meacham Syndrome:

(show all 12)

#	Title	Authors	PMID	Year
1	WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations. ⁶¹ ⁶ ⁵⁷	Suri M...Reardon W	17853480	2007
2	Double vagina with sex reversal, congenital diaphragmatic hernia, pulmonary and cardiac malformations--another case of Meacham syndrome. ⁶¹ ⁵⁷	Killeen OG...Reardon W	11822701	2002
3	Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations. ⁶	Schumacher V...Royer-Pokora B	9607189	1998
4	A clinical overview of WT1 gene mutations. ⁶	Little M...Wells C	9090524	1997
5	Inherited WT1 mutation in Denys-Drash syndrome. ⁶	Coppes MJ...Williams BR	1327525	1992
6	Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome. ⁶	Baird PN...Cowell JK	1338906	1992
7	Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. ⁶	Bruening W...Pelletier J	1302008	1992
8	Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype. ⁵⁷	Meacham LR...Parks JS	1844355	1991
9	Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. ⁶	Pelletier J...Fouser L	1655284	1991
10	Glomerulonephritis associated with male pseudohermaphroditism and nephroblastoma. ⁶	McCoy FE...Spargo BH	6307071	1983
11	The clinical overlap between cardiac-urogenital syndrome, Meacham syndrome, and PAGOD syndrome. Report of a new patient with cardiac-urogenital syndrome. ⁶¹	Alves D...Leao M	32181572	2020
12	Hydrothorax in a patient with Denys-Drash syndrome associated with a diaphragmatic defect. ⁶¹	Cho HY...Choi Y	16932893	2006

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Genes for Meacham Syndrome

Genes related to Meacham Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	WT1	WT1 Transcription Factor	Protein Coding	1678.47	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Variants (show sections)
2	LOC107982234	WT1/WT1-AS Bi-Directional Promoter Region	Biological Region	8.64	GeneCards inferred via : Variants (show sections)

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Variations for Meacham Syndrome

ClinVar genetic disease variations for Meacham Syndrome:

⁶ (show top 50) (show all 115)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	WT1	NM_024426.6(WT1):c.1303C>T (p.Arg435Ter)	SNV	Pathogenic	3497	rs121907906	11:32414263-32414263	11:32392717-32392717
2	WT1	NM_024426.6(WT1):c.1399C>T (p.Arg467Trp)	SNV	Pathogenic	3487	rs121907900	11:32413566-32413566	11:32392020-32392020
3	WT1	NM_024426.6(WT1):c.1315C>T (p.Arg439Cys)	SNV	Pathogenic	3505	rs121907910	11:32414251-32414251	11:32392705-32392705
4	WT1	NM_024426.6(WT1):c.381C>G (p.Pro127=)	SNV	Uncertain significance	261711	rs771681406	11:32456526-32456526	11:32434980-32434980
5	WT1	NM_024426.6(WT1):c.*5T>C	SNV	Uncertain significance	877955		11:32410599-32410599	11:32389053-32389053
6	WT1	NM_024426.6(WT1):c.*629T>C	SNV	Uncertain significance	878010		11:32409975-32409975	11:32388429-32388429
7	WT1	NM_024426.6(WT1):c.124G>A (p.Gly42Ser)	SNV	Uncertain significance	543129	rs762288656	11:32456783-32456783	11:32435237-32435237
8	WT1	NM_024426.6(WT1):c.314C>G (p.Ala105Gly)	SNV	Uncertain significance	476699	rs948061247	11:32456593-32456593	11:32435047-32435047
9	WT1	NM_024426.6(WT1):c.620T>G (p.Leu207Arg)	SNV	Uncertain significance	842948		11:32456287-32456287	11:32434741-32434741
10	WT1	NM_024426.6(WT1):c.313G>T (p.Ala105Ser)	SNV	Uncertain significance	840419		11:32456594-32456594	11:32435048-32435048
11	WT1	NM_024426.6(WT1):c.-87C>T	SNV	Uncertain significance	877311		11:32456993-32456993	11:32435447-32435447
12	WT1	NM_024426.6(WT1):c.973G>A (p.Ala325Thr)	SNV	Uncertain significance	878161		11:32438079-32438079	11:32416533-32416533
13	WT1	NM_024426.6(WT1):c.298C>G (p.Pro100Ala)	SNV	Uncertain significance	877249		11:32456609-32456609	11:32435063-32435063
14	WT1	NM_024426.6(WT1):c.193G>A (p.Gly65Arg)	SNV	Uncertain significance	241478	rs374404615	11:32456714-32456714	11:32435168-32435168
15	WT1	NM_024426.6(WT1):c.*1066T>G	SNV	Uncertain significance	879412		11:32409538-32409538	11:32387992-32387992
16	WT1	NM_024426.6(WT1):c.813G>C (p.Pro271=)	SNV	Uncertain significance	879620		11:32449576-32449576	11:32428030-32428030
17	WT1	NM_024426.6(WT1):c.402G>A (p.Pro134=)	SNV	Uncertain significance	721377	rs777527675	11:32456505-32456505	11:32434959-32434959
18	WT1	NM_024426.6(WT1):c.*100A>G	SNV	Uncertain significance	879521		11:32410504-32410504	11:32388958-32388958
19	WT1	NM_024426.6(WT1):c.83G>A (p.Gly28Glu)	SNV	Uncertain significance	241487	rs751641518	11:32456824-32456824	11:32435278-32435278
20	WT1	NM_024426.6(WT1):c.*110C>T	SNV	Uncertain significance	304415	rs757474299	11:32410494-32410494	11:32388948-32388948
21	WT1	NM_024426.6(WT1):c.390A>G (p.Pro130=)	SNV	Uncertain significance	304424	rs886048228	11:32456517-32456517	11:32434971-32434971
22	WT1	NM_024426.6(WT1):c.-114T>A	SNV	Uncertain significance	304440	rs886048242	11:32457020-32457020	11:32435474-32435474
23	WT1	NM_024426.6(WT1):c.*768A>C	SNV	Uncertain significance	304392	rs886048215	11:32409836-32409836	11:32388290-32388290
24	WT1	NM_024426.6(WT1):c.-90T>C	SNV	Uncertain significance	304435	rs886048238	11:32456996-32456996	11:32435450-32435450
25	WT1	NM_024426.6(WT1):c.136G>T (p.Ala46Ser)	SNV	Uncertain significance	304430	rs886048233	11:32456771-32456771	11:32435225-32435225
26	WT1	NM_024426.6(WT1):c.*1167T>G	SNV	Uncertain significance	304373	rs771770230	11:32409437-32409437	11:32387891-32387891
27	WT1	NM_024426.6(WT1):c.*614A>C	SNV	Uncertain significance	304397	rs886048219	11:32409990-32409990	11:32388444-32388444
28	WT1	NM_024426.6(WT1):c.-82A>C	SNV	Uncertain significance	304433	rs886048236	11:32456988-32456988	11:32435442-32435442
29	WT1	NM_024426.6(WT1):c.*611C>T	SNV	Uncertain significance	304398	rs886048220	11:32409993-32409993	11:32388447-32388447
30	WT1	NM_024426.6(WT1):c.*534C>T	SNV	Uncertain significance	304402	rs868546165	11:32410070-32410070	11:32388524-32388524
31	WT1	NM_024426.6(WT1):c.*513C>T	SNV	Uncertain significance	304403	rs575602262	11:32410091-32410091	11:32388545-32388545
32	WT1	NM_024426.6(WT1):c.-106C>T	SNV	Uncertain significance	304438	rs867975105	11:32457012-32457012	11:32435466-32435466
33	WT1	NM_024426.6(WT1):c.1021_1022GT[18]	Microsatellite	Uncertain significance	304380	rs58549495	11:32409549-32409550	11:32388003-32388004
34	WT1	NM_024426.6(WT1):c.1017-15T>C	SNV	Uncertain significance	304420	rs374441355	11:32421605-32421605	11:32400059-32400059
35	WT1	NM_024426.6(WT1):c.-102C>A	SNV	Uncertain significance	304437	rs886048240	11:32457008-32457008	11:32435462-32435462
36	WT1	NM_024426.6(WT1):c.*366C>A	SNV	Uncertain significance	304406	rs886048223	11:32410238-32410238	11:32388692-32388692
37	WT1	NM_024426.6(WT1):c.1021_1022GT[15]	Microsatellite	Uncertain significance	304379	rs58549495	11:32409550-32409553	11:32388004-32388007
38	WT1	NM_024426.6(WT1):c.-31G>T	SNV	Uncertain significance	304431	rs886048234	11:32456937-32456937	11:32435391-32435391
39	WT1	NM_024426.6(WT1):c.*460C>A	SNV	Uncertain significance	304404	rs886048221	11:32410144-32410144	11:32388598-32388598
40	WT1	NM_024426.6(WT1):c.1021_1022GT[19]	Microsatellite	Uncertain significance	304377	rs58549495	11:32409549-32409550	11:32388003-32388004
41	WT1	NM_024426.6(WT1):c.-110C>T	SNV	Uncertain significance	304439	rs886048241	11:32457016-32457016	11:32435470-32435470
42	WT1	NM_024426.6(WT1):c.*393G>T	SNV	Uncertain significance	304405	rs886048222	11:32410211-32410211	11:32388665-32388665
43	WT1	NM_024426.6(WT1):c.-135G>A	SNV	Uncertain significance	304441	rs886048243	11:32457041-32457041	11:32435495-32435495
44	WT1	NM_024426.6(WT1):c.*741G>T	SNV	Uncertain significance	304393	rs886048216	11:32409863-32409863	11:32388317-32388317
45	WT1	NM_024426.6(WT1):c.285C>T (p.Gly95=)	SNV	Uncertain significance	304426	rs886048230	11:32456622-32456622	11:32435076-32435076
46	WT1	NM_024426.6(WT1):c.*785C>A	SNV	Uncertain significance	304391	rs886048214	11:32409819-32409819	11:32388273-32388273
47	WT1	NM_024426.6(WT1):c.*1058G>T	SNV	Uncertain significance	304376	rs886048211	11:32409546-32409546	11:32388000-32388000
48	WT1	NM_024426.6(WT1):c.247G>T (p.Ala83Ser)	SNV	Uncertain significance	304427	rs886048231	11:32456660-32456660	11:32435114-32435114
49	WT1	NM_024426.6(WT1):c.*666A>G	SNV	Uncertain significance	304396	rs374306749	11:32409938-32409938	11:32388392-32388392
50	WT1	NM_024426.6(WT1):c.*1225T>C	SNV	Uncertain significance	304371	rs886048210	11:32409379-32409379	11:32387833-32387833

UniProtKB/Swiss-Prot genetic disease variations for Meacham Syndrome:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	WT1	p.Arg366Cys	VAR_007745
2	WT1	p.Arg394Trp	VAR_007750

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Expression for Meacham Syndrome

Search GEO for disease gene expression data for Meacham Syndrome.

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Pathways for Meacham Syndrome

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GO Terms for Meacham Syndrome

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Sources for Meacham Syndrome

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²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

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³⁷ LifeMap

³⁸ LncRNADisease

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⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

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⁶¹ PubMed

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Meacham Syndrome (MEACHS)

Aliases & Classifications for Meacham Syndrome

MalaCards integrated aliases for Meacham Syndrome:

Characteristics:

Orphanet epidemiological data:

Classifications:

External Ids:

Summaries for Meacham Syndrome

Related Diseases for Meacham Syndrome

Diseases related to Meacham Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Meacham Syndrome:

Symptoms & Phenotypes for Meacham Syndrome

Human phenotypes related to Meacham Syndrome:

Clinical features from OMIM®:

Drugs & Therapeutics for Meacham Syndrome

Genetic Tests for Meacham Syndrome

Genetic tests related to Meacham Syndrome:

Anatomical Context for Meacham Syndrome

MalaCards organs/tissues related to Meacham Syndrome:

Publications for Meacham Syndrome

Articles related to Meacham Syndrome:

Genes for Meacham Syndrome

Genes related to Meacham Syndrome (1 elite genes):

Variations for Meacham Syndrome

ClinVar genetic disease variations for Meacham Syndrome:

UniProtKB/Swiss-Prot genetic disease variations for Meacham Syndrome:

Expression for Meacham Syndrome

Pathways for Meacham Syndrome

GO Terms for Meacham Syndrome

Sources for Meacham Syndrome